DHPS c.1014+1G>A

Variant ID: 19-12786830-C-T

NM_001930.3(DHPS):c.1014+1G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: DHPS: 1014+1G>A
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
View BVdb publication page



Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment.

Amino Acids
Park, Myung Hee MH; Kar, Rajesh Kumar RK; Banka, Siddharth S; Ziegler, Alban A; Chung, Wendy K WK
Publication Date: 2022-04

Variant appearance in text: DHPS: 1014+1G>A
PubMed Link: 34273022
Variant Present in the following documents:
  • 726_2021_Article_3023.pdf
View BVdb publication page



Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

American Journal Of Human Genetics
Ganapathi, Mythily M; Padgett, Leah R LR; Yamada, Kentaro K; Devinsky, Orrin O; Willaert, Rebecca R; Person, Richard R; Au, Ping-Yee Billie PB; Tagoe, Julia J; McDonald, Marie M; Karlowicz, Danielle D; Wolf, Barry B; Lee, Joanna J; Shen, Yufeng Y; Okur, Volkan V; Deng, Liyong L; LeDuc, Charles A CA; Wang, Jiayao J; Hanner, Ashleigh A; Mirmira, Raghavendra G RG; Park, Myung Hee MH; Mastracci, Teresa L TL; Chung, Wendy K WK
Publication Date: 2019-02-07

Variant appearance in text: DHPS: 1014+1G>A
PubMed Link: 30661771
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: DHPS: 1014+1G>A
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page